Evidence mapPaperPMID 40068686Full record

ReviewAmerican journal of human genetics2025

The expanding global genomics landscape: Converging priorities from national genomics programs.

Caitlin Howley, Matilda A Haas, Wadha A Al Muftah, Robert B Annan, Eric D Green, Bettina Lundgren, Richard H Scott, Zornitza Stark, Patrick Tan, Kathryn N North and 1 more

Abstract readReview
In one paragraph

Review in American journal of human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. Article
  4. Review
  5. Article
  6. Genomics in Health and Biomedicine.Advances in experimental medicine and biology · 2026
    Review
  7. Article
  8. Article
  9. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Caitlin HowleyAustralian Genomics, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia. Electronic address: caitlin.howley@mcri.edu.au.
Matilda A HaasAustralian Genomics, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
Wadha A Al MuftahQatar Genome Program, Qatar Precision Health Institute, Qatar Foundation, Doha, Qatar; Department of Genetic Medicine, Weill Cornell Medicine, Doha, Qatar.
Robert B AnnanGenome Canada, Ottawa, ON K2P 1P1, Canada.
Eric D GreenNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-2152, USA.
Bettina LundgrenDanish National Genome Center, Ørestads Boulevard 5, Building 208, 2300 Copenhagen, Denmark.
Richard H ScottGenomics England, One Canada Square, London E14 5AB, UK; Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London WC1N 3JH, UK; UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.
Zornitza StarkAustralian Genomics, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia.
Patrick TanPrecision Health Research, Singapore 139234, Singapore; SingHealth Duke-NUS Institute of Precision Medicine, Singapore 169609, Singapore; Genome Institute of Singapore, Agency for Science, Technology and Research (A(∗)STAR), Singapore 138672, Singapore.
Kathryn N NorthAustralian Genomics, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia.
Tiffany BoughtwoodAustralian Genomics, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The global landscape of health genomics is expanding rapidly, with an increasing number of national and international initiatives, many of which are targeted toward accelerating the clinical implementation of genomic technologies and services in the context of local health systems. This includes a range of entities with different levels of maturity, funding sources, and strategies that focus on research and clinical priorities to varying degrees. While there is no "one-size-fits-all" approach, analysis of national genomics programs helps to identify common priority areas, barriers, and enablers. Here, we synthesize the converging priorities of several national genomics programs to highlight the importance of progressing genomics research and clinical implementation on a national scale.

Indexed as

GenomicsHumansgeneticsgenomic medicinegenomic research investmentprecision medicinepublic health genomicsresearch translation

Identifiers

PMID40068686
PMCPMC12081226

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.